rs137854856

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs137854856(A;A)

Make rs137854856(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

74508727

Gene

LTBP2

is a	snp
is	mentioned by
dbSNP	rs137854856
dbSNP (classic)	rs137854856
ClinGen	rs137854856
ebi	rs137854856
HLI	rs137854856
Exac	rs137854856
Gnomad	rs137854856
Varsome	rs137854856
LitVar	rs137854856
Map	rs137854856
PheGenI	rs137854856
Biobank	rs137854856
1000 genomes	rs137854856
hgdp	rs137854856
ensembl	rs137854856
geneview	rs137854856
scholar	rs137854856
google	rs137854856
pharmgkb	rs137854856
gwascentral	rs137854856
openSNP	rs137854856
23andMe	rs137854856
SNPshot	rs137854856
SNPdbe	rs137854856
MSV3d	rs137854856
GWAS Ctlg	rs137854856

Max Magnitude

0

ClinVar
Risk	rs137854856(A;A)
Alt	rs137854856(A;A)
Reference	Rs137854856(G;G)
Significance	Pathogenic
Disease	Weill-Marchesani syndrome 3 Weill-Marchesani syndrome 1
Variation	info
Gene	LTBP2
CLNDBN	Weill-Marchesani syndrome 3 Weill-Marchesani syndrome 1
Reversed	1
HGVS	NC_000014.8:g.74975430C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030740.2, RCV000114810.1,